Compound heterozygous mutations in the SCN5A-encoded Nav1.5 cardiac sodium channel resulting in atrial standstill and His-Purkinje system disease

Shankar Baskar; Michael J. Ackerman; Diane Clements; Kenneth A. Mayuga; Peter F. Aziz

doi:10.1016/j.jpeds.2014.07.036

Compound heterozygous mutations in the SCN5A-encoded Nav1.5 cardiac sodium channel resulting in atrial standstill and His-Purkinje system disease

Shankar Baskar, Michael J. Ackerman, Diane Clements, Kenneth A. Mayuga, Peter F. Aziz

Cardiovascular Medicine

Research output: Contribution to journal › Article › peer-review

10 Scopus citations

Abstract

An 11-year-old girl on evaluation for syncope was found to have progressive sinus node dysfunction and His-Purkinje system disease with atrial standstill. Genetic analysis revealed compound heterozygous mutations of the SCN5A gene in a novel combination.

Original language	English (US)
Pages (from-to)	1050-1052
Number of pages	3
Journal	Journal of Pediatrics
Volume	165
Issue number	5
DOIs	https://doi.org/10.1016/j.jpeds.2014.07.036
State	Published - Nov 1 2014

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/j.jpeds.2014.07.036

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title = "Compound heterozygous mutations in the SCN5A-encoded Nav1.5 cardiac sodium channel resulting in atrial standstill and His-Purkinje system disease",

abstract = "An 11-year-old girl on evaluation for syncope was found to have progressive sinus node dysfunction and His-Purkinje system disease with atrial standstill. Genetic analysis revealed compound heterozygous mutations of the SCN5A gene in a novel combination.",

author = "Shankar Baskar and Ackerman, {Michael J.} and Diane Clements and Mayuga, {Kenneth A.} and Aziz, {Peter F.}",

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AU - Baskar, Shankar

AU - Ackerman, Michael J.

AU - Clements, Diane

AU - Mayuga, Kenneth A.

AU - Aziz, Peter F.

PY - 2014/11/1

Y1 - 2014/11/1

N2 - An 11-year-old girl on evaluation for syncope was found to have progressive sinus node dysfunction and His-Purkinje system disease with atrial standstill. Genetic analysis revealed compound heterozygous mutations of the SCN5A gene in a novel combination.

AB - An 11-year-old girl on evaluation for syncope was found to have progressive sinus node dysfunction and His-Purkinje system disease with atrial standstill. Genetic analysis revealed compound heterozygous mutations of the SCN5A gene in a novel combination.

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JO - Journal of Pediatrics

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Compound heterozygous mutations in the SCN5A-encoded Nav1.5 cardiac sodium channel resulting in atrial standstill and His-Purkinje system disease

Abstract

ASJC Scopus subject areas

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